This website provides information on patients with mutations in the RECQL1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the RECQL1 gene is a multisystem disorder characterized by short stature, growth retardation, weight loss, small reduction in head , photosensitivity, xeroderma, progeroid facial appearance e.g. tiny pinched nose, prominent premaxilla, smooth philtrum, thin lips and senile-like face, xerophthalmia, slender elongated thumbs, joint laxity, wasting of muscles and delayed eruption of teeth.

Not all individuals with a mutation in the RECQL1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the RECQL1 gene.

Grant Stewart, PhD, University of Birmingham, Birmingham, UK, g.s.stewart@bham.ac.uk